ARC syndrome

Term ID

DOID:0050763

Synonyms

• Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
• ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
• Arthrogryposis-renal dysfunction-cholestasis

Definition

A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (4)

References

• OMIM:PS208085
• ORDO:2697

Ontology

Human Disease   ( DOID:0050763 )